ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.27C>T (p.Asp9=)

gnomAD frequency: 0.00001  dbSNP: rs727504717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156006 SCV000205718 likely benign not specified 2013-08-06 criteria provided, single submitter clinical testing Asp9Asp in exon 1 of SPRED1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
Invitae RCV002056109 SCV002421812 likely benign Legius syndrome 2023-09-04 criteria provided, single submitter clinical testing

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